Radoslava V. Vazharova

Sofia, Bulgaria

Last Updated: 09/26/2026

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Found 14 publications

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Journal: Clinical genetics

Published: July 24, 2026

Expression Profiling of Immune-Related Genes in Different Samples from Patients with Endometriosis Revealed Upregulation of THBS1, CHGB and CYR61.

Expression Profiling of Immune-Related Genes in Different Samples from Patients with Endometriosis Revealed Upregulation of THBS1, CHGB and CYR61.

Journal: International journal of molecular sciences

Published: June 30, 2026

Characterization of Streptococcus pyogenes Strains from Tonsillopharyngitis and Scarlet Fever Resurgence, 2023-FIRST Detection of M1UK in Bulgaria.

Characterization of Streptococcus pyogenes Strains from Tonsillopharyngitis and Scarlet Fever Resurgence, 2023-FIRST Detection of M1UK in Bulgaria.

Journal: Microorganisms

Published: December 19, 2024

Combination of two rare mutations in the SARS-CoV-2 M gene in patients with severe and prolonged COVID-19.

Combination of two rare mutations in the SARS-CoV-2 M gene in patients with severe and prolonged COVID-19.

Journal: Infectious diseases (London, England)

Published: July 26, 2023

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Journal: European journal of human genetics : EJHG

Published: March 22, 2023

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.

Journal: Clinical genetics

Published: January 24, 2022

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Journal: Technology in cancer research & treatment

Published: April 03, 2020

Clinical impact of copy number variation changes in bladder cancer samples.

Clinical impact of copy number variation changes in bladder cancer samples.

Journal: Experimental and therapeutic medicine

Published: November 30, 2019

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: June 19, 2018

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: November 10, 2016

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Journal: Case reports in obstetrics and gynecology

Published: March 19, 2016

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

Journal: BioMed research international

Published: February 19, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026